5 research outputs found

    Idiopathic nephrotic syndrome in South African children.

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    Background: Different histo-pathological types and treatment response patterns of Idiopathic nephrotic syndrome (INS) have been associated with differences in ethnicity and geographical location.Objective: To provide an update on the steroid response and renal histo-pathological pattern in children treated for INS.Method: Medical records of children with INS treated at the Charlotte Maxeke Johannesburg Academic Hospital were reviewed.Results: Mean age was 5.3 years ± 2.8. The majority (68.1%) of the 163 children were of the black racial group. The highest rate of INS was seen in the 2-6 year age group (71.2%). The black racial group had the highest rate (42/111; 37.8%) of focal segmental glomerulosclerosis (FSGS), and the white race had the highest rate (9/14; 64.3%) of minimal change disease (MCD). Ninety four (57.7%) patients were steroid sensitive (SSNS) while 69 patients (42.3%) were steroid resistant (SRNS). Minimal change disease was the most common histo-pathological type seen in SSNS (60%), while FSGS was the most common observed in patients who had SRNS (65.2%).Conclusion: There appears to be a higher rate of FSGS in all the racial groups, and also a higher rate of MCD in the black race group, when compared to previous reports.Keywords: Idiopathic, nephrotic syndrome, children

    The podocin V260E mutation predicts steroid resistant nephrotic syndrome in black South African children with focal segmental glomerulosclerosis

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    In black African children with focal segmental glomerulosclerosis (FSGS) there are high rates of steroid resistance. The aim was to determine genetic associations with apolipoprotein L1 (APOL1) renal risk variants and podocin (NPHS2) variants in 30 unrelated black South African children with FSGS. Three APOL1 variants were genotyped and the exons of the NPHS2 gene sequenced in the cases and controls. APOL1 risk alleles show a modest association with steroid sensitive nephrotic syndrome (SSNS) and steroid resistant nephrotic syndrome (SRNS). The NPHS2 V260E variant was present in SRNS cases (V/V = 5; V/E = 4; E/E = 11), and was absent in SSNS cases. Haplotype analysis suggests a single mutation origin for V260E and it was associated with a decline in kidney function over a 60-month period (p = 0.026). The V260E variant is a good predictor of autosomal recessive SRNS in black South African children and could provide useful information in a clinical setting.The Department of Science and Technologyhttps://www.nature.com/commsbioam2020Paediatrics and Child Healt

    The South African guidelines on enuresis-2017

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    Introduction: Enuresis (or Nocturnal Enuresis) is defined as discreet episodes of urinary incontinence during sleep in children over 5 years of age in the absence of congenital or acquired neurological disorders. Recommendations: Suggestions and recommendations are made on the various therapeutic options available within a South African context. These therapeutic options include; behavioural modification, pharmaceutical therapy [Desmospressin (DDAVP), Anticholinergic (ACh) Agents, Mirabegron (beta 3-adrenoreceptor agonists), and Tricyclic Antidepressants (TCA)], alternative treatments, complementary therapies, urotherapy, alarm therapy, psychological therapy and biofeedback. The role of the Bladder Diary, additional investigations and Mobile Phone Applications (Apps) in enuresis is also explored. Standardised definitions are also outlined within this document. Conclusion: An independent, unbiased, national evaluation and treatment guideline based on the pathophysiological subcategory is proposed using an updated, evidence based approach. This Guideline has received endorsement from the South African Urological Association, Enuresis Academy of South Africa and further input from international experts within the field
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